A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1929160



Internal ID17777676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52094618..52108250hg38UCSC Ensembl
Innerchr12:52488402..52502034hg19UCSC Ensembl
Innerchr12:50774669..50788301hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3813633
hg1913633
hg1813633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983324
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1929160
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer